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Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Sponsor: Boston Children's Hospital
Summary
The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.
Key Details
Gender
All
Age Range
18 Months - Any
Study Type
OBSERVATIONAL
Enrollment
205
Start Date
2015-05
Completion Date
2026-12
Last Updated
2025-02-17
Healthy Volunteers
Yes
Locations (5)
Stanford University
Stanford, California, United States
Rush University Medical Center
Chicago, Illinois, United States
National Institutes of Health
Bethesda, Maryland, United States
Boston Children's Hospital
Boston, Massachusetts, United States
Icahn School of Medicine at Mount Sinai
New York, New York, United States